Results 71 to 80 of about 87,940 (259)
Journal of Medical Case Reports, 2012 Introduction A wide variety of skin manifestations are associated with Mycoplasma pneumoniae infection. However, the precise mechanisms by which M. pneumoniae infection is able to produce a variety of cutaneous manifestations are poorly understood.
Shimizu Masaki +4 more
doaj +1 more source
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source
Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco +2 more
wiley +1 more source
A Case of Thrombotic Cutaneous Gangrene in a Patient With Pan-Ulcerative Colitis
Annals of Internal Medicine: Clinical CasesThe most common extraintestinal manifestations of inflammatory bowel disease (IBD) involve the musculoskeletal and cutaneous systems, with cutaneous manifestations occurring in up to 50% of patients with IBD. Hypercoagulability is a known complication of
Rasika Patil +4 more
doaj +1 more source
Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley +1 more source
Arthritis &Rheumatology, EarlyView.Objective Immune complexes (ICs), formed by autoantigen and autoantibody, play a pathogenic role in systemic autoimmune diseases through stimulation of Fcγ receptors (FcγR). However, studies investigating bioactivity of circulating ICs across various diseases remain limited.
Koji Suzuki +8 more
wiley +1 more source
Arthritis &Rheumatology, EarlyView.Objective To assess the 2022 American College of Rheumatology (ACR)/EULAR classification criteria for antineutrophil cytoplasmic antibody–associated vasculitis (AAV) in children with chronic small‐to‐medium vessel vasculitis. Methods A cohort of 574 patients, identified by physician's diagnosis (MD‐diagnosis) in A Registry of Childhood Vasculitis, was ...
David A. Cabral +41 more
wiley +1 more source
Cutaneous Manifestations of Porphyria [PDF]
BMJ, 1953 G, DISCOMBE, C S, TREIP
openaire +2 more sources
Arthritis &Rheumatology, EarlyView.Objective To characterize the clinical, immunologic, and proteomic changes associated with CD19 chimeric antigen receptor T cell therapy in patients with progressive systemic sclerosis (SSc). Methods Patients with progressive SSc received CD19 chimeric antigen receptor (CAR)‐T cell therapy and were observed longitudinally for safety, clinical efficacy,
Chenhan Jia +16 more
wiley +1 more source
Expert Perspectives: Defining and Managing Progressive Pulmonary Fibrosis in Systemic Sclerosis
Arthritis &Rheumatology, EarlyView.Systemic sclerosis–associated interstitial lung disease (SSc‐ILD) is one of the leading causes of morbidity and mortality in SSc, affecting up to three‐quarters of patients. The disease course is highly heterogeneous, ranging from indolent, nonprogressive forms to rapidly progressive pulmonary fibrosis (PPF).
Devis Benfaremo +7 more
wiley +1 more source